My almost four-year-old had an MRI at 3 yrs 9 mos which showed "mild delay in myelination." The degree is that it should have been fully myelinated by age two. We then had him tested for the leukodystrophies even though his developmental problems have been consistent delays since birth and are improving with therapy. We received the results today at which time the neurologist said that he does not have a leukodystrophy, but that at some point he should be tested to see if he is a "carrier" (his word). How can a boy be a carrier of x-linked adrenoleukodystrophy?!
Given that I can find no information which would indicate that a boy could be a carrier I am concerned that he does have some form of this disease. The results note that all was within normal range except the C26:0, which was 1.82 with normal being <=1.30; the C26:0/C22:0 ratio is normal, but is very close at 0.022 with normal being <=0.023. The last line of the comments is: Consider sending another sample to repeat the analysis to rule out hemizygosity for x-linked adrenoleukodystrophy.
Can anyone help me decipher this result?!
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Are there male carriers? (Cross-post with parents board.)
- By Js_Mommy
- Posted May 4, 2009 at 10:39 pm · 6 replies
- In X-linked adrenoleukodystrophy (X-ALD) - Female carriers
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- By Amkahler
- Posted May 5, 2009 at 8:42 am
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Men who have ALD are always going to pass the "carrier" x gene to their daughters. They can never pass the disease on to a son because they give a son their "y" chromosone. I guess I would be somewhat concerned about the elevated C26 levels.....that is the main thing they look for when checking to see if the disease is present.
- By Js_Mommy
- Posted May 5, 2009 at 8:51 am
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But, if he has the x gene wouldn't that mean he has some form of it?
Thanks.
- By sjm
- Posted May 5, 2009 at 9:54 am
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where did you have the test done and what did they say, it should say normal range if it is not ALD. Was it KKI and did they say to re-do the test? Does your dr. know about ALD? Some doctors don't know much about it. If you look on this site the info to contact the nurse at KKI is available everyone reccommends her for advice. Her name is Kim Hollingsworth.
- By Js_Mommy
- Posted May 5, 2009 at 12:15 pm
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I don't even know what KKI is. We had it done locally, but the results are compared to what is the standard at the Mayo Clinic. So, the C26 was slightly elevated.
I'm not sure how much our doctor knows about ALD. I assumed he would at least know what the recommendation to retest meant. He said our son could be a carrier, and that's what has kept me up half the night and trying to explain all that I do know to my mother and husband. What's throwing us is the hemizygosity word in the direction. We don't understand what it means in terms of this disease.
My husband is trying to contact the doctor today and fax the results to a friend of ours who is a biologist. I could try to contact the person you mention, too. Thanks!
- By bnkg
- Posted May 5, 2009 at 12:25 pm
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See my response under your other topic you posted.It has all the info on KKI.
- By Js_Mommy
- Posted May 5, 2009 at 1:40 pm
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I posted what I found at the other cross-posted thread in the parents board. The short version is that I heard from Dr. Raymond at the Kennedy Krieger Institute who confirmed that males can not be carriers unless they have the exceedingly rare condition of having two X chromosomes (XXY), which is another condition in itself. We are going to follow up as soon as possible with another test, hopefully with a new pediatric neurologist.
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